Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism.
10.3760/cma.j.cn511374-20211220-01008
- Author:
Qian LI
1
;
Jia HUANG
;
Xing DAI
;
Jiahuan HE
;
Congmin LI
;
Yue WANG
;
Hongyan LIU
Author Information
1. Institute of Medical Genetics, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. liuhongyanqhhy@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Pedigree;
East Asian People;
Mothers;
Exome Sequencing;
Pseudohypoparathyroidism/genetics*;
Mutation;
China;
Chromogranins/genetics*;
GTP-Binding Protein alpha Subunits, Gs/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(1):31-35
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a Chinese pedigree affected with pseudohypoparathyroidism.
METHODS:Peripheral blood samples of the proband and his parents were collected and subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified among the pedigree and 50 randomly selected healthy individuals through analysis of restriction fragment length polymorphism. Short tandem repeat (STR) linkage analysis was used to verify the parental origin of the pathogenic variants.
RESULTS:Trio-WES and Sanger sequencing showed that the proband and his mother had both harbored a c.121C>G (p.His41Asp) variant of the GNAS gene, which was not found in other family members and the 50 healthy controls. The variant was not found in international databases. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic.
CONCLUSION:The novel c.121C>G variant of the GNAS gene probably underlay the disease in this pedigree. Above finding has enriched the spectrum of GNAS gene variants.
